CTNND2 catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein) [Homo sapiens] - Gene

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Summary

Official Symbol: CTNND2provided by HGNC
Official Full Name: catenin (cadherin-associated protein), delta 2 (neural plakophilin-related arm-repeat protein)provided by HGNC
Primary source: HGNC:2516
See related: Ensembl:ENSG00000169862; HPRD:09181; MIM:604275; Vega:OTTHUMG00000090511
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: GT24; NPRAP
Summary: This gene encodes an adhesive junction associated protein of the armadillo/beta-catenin superfamily and is implicated in brain and eye development and cancer formation. The protein encoded by this gene promotes the disruption of E-cadherin based adherens junction to favor cell spreading upon stimulation by hepatocyte growth factor. This gene is overexpressed in prostate adenocarcinomas and is associated with decreased expression of tumor suppressor E-cadherin in this tissue. This gene resides in a region of the short arm of chromosome 5 that is deleted in Cri du Chat syndrome.[provided by RefSeq, Aug 2010]

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Genomic context

Location :: 5p15.2

Sequence :: Chromosome: 5; NC_000005.9 (10971952..11904110, complement)

See CTNND2 in Epigenomics, MapViewer

Chromosome 5 - NC_000005.9 Genomic Context describing neighboring genes

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Genomic regions, transcripts, and products

Genomic Sequence

Go to nucleotideGraphics FASTA GenBank

Go to reference sequence details

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Bibliography

GeneRIFs: Gene References Into Functions What's a GeneRIF?

These results confirmed the strong association between CTNND2 polymorphism and myopia.
Title: Replication study supports CTNND2 as a susceptibility gene for high myopia.
The studies support coordinated regulation of delta-catenin expression by both the activating transcription factor E2F1 and repressive transcription factor Hes1 in prostate cancer progression.
Title: Human homolog of Drosophila Hairy and enhancer of split 1, Hes1, negatively regulates δ-catenin (CTNND2) expression in cooperation with E2F1 in prostate cancer.
This study identified a strong association of CTNND2 for high myopia in Asian datasets. The CTNND2 gene maps to a known high myopia linkage region on chromosome 5p15.
Title: Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.
The delta catenin is essential for N-cadherin-mediated formation of proper junctional structures and thereby the establishment of the cell polarity.
Title: p120-Catenin is essential for N-cadherin-mediated formation of proper junctional structure, thereby establishing cell polarity in epithelial cells.
Cells overexpressing delta-catenin have less p120-catenin than control cells at the cell-cell interface, causing the relocalization of p120-catenin from the plasma membrane to the cytosol. CTNND2 binding to E-cadherin adversely affects CTNND1 stability.
Title: Delta-catenin affects the localization and stability of p120-catenin by competitively interacting with E-cadherin.
Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator)
Title: Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score.
Data report that either Pax6(+5a) or Pax6(-5a) was sufficient to promote, whereas their knockdown reduced the expression of delta-catenin (CTNND2), a neural specific member of the armadillo/beta-catenin superfamily.
Title: Isoform- and dose-sensitive feedback interactions between paired box 6 gene and delta-catenin in cell differentiation and death.
Increased nucleotide polymorphic changes in the 5'-untranslated region of delta-catenin (CTNND2) gene in prostate cancer.
Title: Increased nucleotide polymorphic changes in the 5'-untranslated region of delta-catenin (CTNND2) gene in prostate cancer.
Using shotgun mass spectrometry, we found this protein differentially expressed in the dorsolateral prefrontal cortex from patients with schizophrenia.
Title: Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia.
Observational study of gene-disease association. (HuGE Navigator)
Title: Coeliac disease-associated risk variants in TNFAIP3 and REL implicate altered NF-kappaB signalling.

Submit: New GeneRIF Correction See all (13)

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Phenotypes

Review eQTL and phenotype association data in this region using PheGenI

Genome-wide association studies reveal genetic variants in CTNND2 for high myopia in Singapore Chinese.

Mental retardation in cri-du-chat syndrome

MIM: 123450

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Products	Interactant	Other Gene	Source	Pubs	Description
NP_001323.1	NP_835260.1	PDZD2	BIND	PubMed	PAPIN interacts with NPRAP. This interaction was modeled on a demonstrated interaction between rat PAPIN and NPRAP from an unidentified species.
NP_001323.1	NP_000012.1	PSEN1	BIND	PubMed	PS1 interacts with NPRAP
Q9UQB3	P00519	ABL1	HPRD	PubMed
Q9UQB3	P12830	CDH1	HPRD	PubMed
Q9UQB3	P19022	CDH2	HPRD	PubMed
Q9UQB3	P35222	CTNNB1	HPRD	PubMed
Q9UQB3	Q9UQB3	CTNND2	HPRD	PubMed
Q9UQB3	Q14247	CTTN	HPRD	PubMed
Q9UQB3	Q96RT1	ERBB2IP	HPRD	PubMed
Q9UQB3	P06241	FYN	HPRD	PubMed
Q9UQB3	P06239	LCK	HPRD	PubMed
Q9UQB3	Q96NW7	LRRC7	HPRD	PubMed
Q9UQB3	Q86UL8	MAGI2	HPRD	PubMed
Q9UQB3	O15018	PDZD2	HPRD	PubMed
Q9UQB3	P49768	PSEN1	HPRD	PubMed
Q9UQB3	P49810	PSEN2	HPRD	PubMed
Q9UQB3	Q9NYA1	SPHK1	HPRD	PubMed
BioGRID:107882	BioGRID:108156	ATN1	BioGRID	PubMed	Two-hybrid
BioGRID:107882	BioGRID:121610	LRRC7	BioGRID	PubMed	Affinity Capture-Western; Reconstituted Complex; Two-hybrid
BioGRID:107882	BioGRID:116237	NUDT21	BioGRID	PubMed	Two-hybrid
BioGRID:107882	BioGRID:116676	PDZD2	BioGRID	PubMed	Reconstituted Complex; Two-hybrid
BioGRID:107882	BioGRID:113127	TTR	BioGRID	PubMed	Two-hybrid
BioGRID:107882	BioGRID:113164	UBC	BioGRID	PubMed	Affinity Capture-MS
BioGRID:107882	BioGRID:115327	ZBTB33	BioGRID	PubMed	Affinity Capture-Western

Function	Evidence Code	Pubs
protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
cell adhesion	IEA Inferred from Electronic Annotation more info
learning	IEA Inferred from Electronic Annotation more info
morphogenesis of a branching structure	IEA Inferred from Electronic Annotation more info
multicellular organismal development	IEA Inferred from Electronic Annotation more info
neuron cell-cell adhesion	NAS Non-traceable Author Statement more info
regulation of synaptic plasticity	IEA Inferred from Electronic Annotation more info
regulation of transcription, DNA-dependent	IEA Inferred from Electronic Annotation more info
signal transduction	TAS Traceable Author Statement more info	PubMed

Component	Evidence Code	Pubs
adherens junction	IEA Inferred from Electronic Annotation more info
cell junction	IEA Inferred from Electronic Annotation more info
cytoplasm	TAS Traceable Author Statement more info	PubMed
nucleus	IEA Inferred from Electronic Annotation more info
perikaryon	IEA Inferred from Electronic Annotation more info
postsynaptic density	IEA Inferred from Electronic Annotation more info
synaptosome	IEA Inferred from Electronic Annotation more info

General protein information

Preferred Names: catenin delta-2

Names: catenin delta-2; neurojungin; T-cell delta-catenin

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NCBI Reference Sequences (RefSeq)

RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

Genomic

NG_023544.1 RefSeqGene

Range

5001..937159

Download

GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

NM_001332.2 → NP_001323.1 catenin delta-2

Status: REVIEWED

Source sequence(s)

AB013805, BF512945, U52351, U96136

Consensus CDS

CCDS3881.1

UniProtKB/Swiss-Prot

Q9UQB3

Related

ENSP00000307134, OTTHUMP00000115594, ENST00000304623, OTTHUMT00000206999

Conserved Domains (2) summary

cd00020
Location:544 – 666
Blast Score: 286

ARM; Armadillo/beta-catenin-like repeats. An approximately 40 amino acid long tandemly repeated sequence motif first identified in the Drosophila segment polarity gene armadillo; these repeats were also found in the mammalian armadillo homolog beta-catenin, ...

PHA03307
Location:255 – 534
Blast Score: 104

PHA03307; transcriptional regulator ICP4; Provisional

RefSeqs of Annotated Genomes: Build 37.3

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh37.p5 Primary Assembly

Genomic

NC_000005.9 Reference GRCh37.p5 Primary Assembly

Range

10971952..11904110, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

Alternate HuRef

Genomic

AC_000137.1 Alternate HuRef

Range

10955380..11886519, complement

Download

GenBank, FASTA, Sequence Viewer (Graphics)

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Related Sequences

Nucleotide		Protein
Heading	Accession and Version	Protein
genomic	AC003089.1	AAB83940.1
genomic	AC003954.1	None
genomic	AC004633.1 (1900..36224)	None
genomic	AC004648.1	None
genomic	AC005367.1 (462..81586)	None
genomic	AC005610.1 (105693..223407)	None
genomic	AC010433.9 (4713..258928)	None
genomic	AC010626.6 (154037..160311)	None
genomic	AC113390.3 (22451..196544)	None
genomic	AC127460.2 (37273..43433)	None
genomic	CH471102.2	EAX08053.1
		EAX08054.1
		EAX08055.1
genomic	EU350953.1	ABY59658.1
mRNA	AB013805.1	BAA36163.1
mRNA	AF035302.1	AAB88185.1
mRNA	AK127257.1	BAG54466.1
mRNA	AK226124.1	None
mRNA	AK294420.1	BAG57669.1
mRNA	AK296232.1	BAG58953.1
mRNA	AK299300.1	BAG61314.1
mRNA	BF512945.1	None
mRNA	EU328348.1	ACA13456.1
mRNA	U52351.1	AAB97957.1
mRNA	U52828.1	AAB96357.1
mRNA	U72665.1	AAB68599.1
mRNA	U81004.1	AAD00453.1
mRNA	U96136.1	AAC63103.1
other-genetic	BC111837.3	AAI11838.1